Lysinuric protein intolerance (LPI) is a rare, autosomal recessively inherited metabolic disease, caused by a mutation within the gene SCL7A7 on 14q11. The disease is characterized by intolerance of protein-rich foods, with secondary disruption of the urea cycle. The highest incidence of LPI has been observed in Finland (1/60,000 births), Italy, and Japan. There are no available epidemiological data for Poland.
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